Ectodermal dysplasia

Gene: SNRPE

Amber List (moderate evidence)

SNRPE (small nuclear ribonucleoprotein polypeptide E)
EnsemblGeneIds (GRCh38): ENSG00000182004
EnsemblGeneIds (GRCh37): ENSG00000182004
OMIM: 128260, Gene2Phenotype
SNRPE is in 4 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: With addition of a further case identified in the 100K Project, as highlighted by Gavin Ryan (WMRGL), there is now enough evidence to promote this gene to Green status at the next GMS panel update (tagged)

Pan et al. 2021 (PMID: 33792916) also recently reported on 3 further unrelated patients with hypotrichosis who were found to harbour two novel heterozygous variants (c.54+2T>A and c.221T>C), and one previously reported variant (c.1A>G), in SNRPE
Created: 30 Jun 2021, 2:21 p.m. | Last Modified: 30 Jun 2021, 3:30 p.m.
Panel Version: 1.23

Gavin Ryan (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

The c.1A>G; p.(Met1?) variant, found in 2 families as described in previous reviews for this gene, has been identified in an individual who was recruited to the 100,000 Genomes Project and was found to have occurred de novo. The patient had alopecia.

Gene should be green and included on next iteration of Ectodermal dysplasia for GMS based on Pasternack paper and this patient.
Created: 14 May 2021, 9:42 a.m. | Last Modified: 14 May 2021, 9:42 a.m.
Panel Version: 1.19

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept SNRPE rating as Amber awaiting further cases. Probable DD-G2P gene for hypotrichosis. Originally reviewed as red based on the variable phenotype in the original 1998 Spanish family. Plus, although there are 3 cases presented in PMID:23246290 (Pasternack et al., 2013), the genotype for the Tunisian family is incomplete as only the proband was sequenced.
Created: 20 Feb 2017, 2:18 p.m.
Comment on list classification: Updated rating from Red to Amber: 3 cases presented in PMID:23246290 but in the Tunisian case, DNA is not available from the unaffected parents. And in the Spanish case, the phenotype is highly variable.
Created: 16 Feb 2017, 9:39 a.m.
A third case is given in the same paper: PMID:23246290 (Pasternack et al., 2013) identify an additional mutation ((c.133G>A [p.Gly45Ser]) in a Tunisian boy with hypotrichosis. His parents were unaffected (therefore mutation could be de novo) but their DNA was unavailable for analysis.
Created: 16 Feb 2017, 9:38 a.m.
PMID:23246290 (Pasternack et al., 2013) identify a heterozygous mutation c.1A>G (p.Met1?) in SNRPE in affected members of a Spanish family, and an unrelated British girl. They class the mutation in the British girl as de novo (her unaffected parents lacked the mutation). The Spanish family was previouslyreported by PMID:9621144 (Just et al., 1998), and the reviewer notes this family showed phenotypic variability.
Created: 16 Feb 2017, 9:37 a.m.

Celia Moss (Birmingham Children's Hospital)

I don't know

I note that 2 other cases have been reported with alopecia and mutations in this gene, so there are > 3 unrelated cases.
Created: 13 Feb 2017, 10:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Highly variable phenotype within the single family reported (in 1998).

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Hypotrichosis 11, OMIM:615059
Tags
Q2_21_rating Q2_21_NHS_review
OMIM
128260
Clinvar variants
Variants in SNRPE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jun 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: SNRPE were set to 23246290

30 Jun 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SNRPE were changed from Hypotrichosis 11, 615059; HYPT11 to Hypotrichosis 11, OMIM:615059

30 Jun 2021, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: SNRPE. Tag Q2_21_NHS_review tag was added to gene: SNRPE.

30 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: snrpe has been classified as Amber List (Moderate Evidence).

3 Jan 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SNRPE was added gene: SNRPE was added to Ectodermal dysplasia. Sources: Expert Review Amber Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SNRPE were set to 23246290 Phenotypes for gene: SNRPE were set to Hypotrichosis 11, 615059; HYPT11